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A nonsense PAX6 mutation in a family with congenital aniridia

Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we repo...

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Bibliografische gegevens
Gepubliceerd in:Korean J Pediatr
Hoofdauteurs: Han, Kyoung Hee, Lee, Hye Jin, Ha, Il-Soo, Kang, Hee Gyung, Cheong, Hae Il
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: The Korean Pediatric Society 2016
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5177687/
https://ncbi.nlm.nih.gov/pubmed/28018434
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S1
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